Barttin Anticorpi

The BSND gene encodes Barttin, a protein comprised of two putative transmembrane a helices. Barttin expression is detected in the thin limb and thick ascending limb of the loop of Henle in the kidney, and in the dark cells of the inner ear. The BSND gene is mutated in Bartter syndrome, a genetic disease characterized by hypokalemia, metabolic alkalosis and normal to low blood pressure, which occurs with sensorineural deafness, irreversible hearing loss due to cochlear sensorineural or cochlear nerve damage. Barttin acts as an essential b subunit for CLCKNA and CLCKNB chloride channels, with which it co-localizes in basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in either CLCKNB or Barttin compromise currents through heteromeric channels that can be stimulated further by mutating a proline-tyrosine (PY) motif on Barttin. Heteromers formed by chloride channels and Barttin are essential for renal salt reabsorption and potassium recycling in the inner ear.